Canonical Allele Identifier: CA229597651

Gene: SLC37A4

Linked Data

• dbSNP Id: rs921036352
• gnomAD v4: 11-119026481-T-G
• MyVariant Identifiers: chr11:g.118897191T>G (hg19) ; chr11:g.119026481T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026481T>G , CM000673.2:g.119026481T>G	GRCh38
NC_000011.9:g.118897191T>G , CM000673.1:g.118897191T>G	GRCh37
NC_000011.8:g.118402401T>G	NCBI36
NG_013331.1:g.9425A>C , LRG_187:g.9425A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1015-401A>C
ENST00000697845.1:n.1394A>C
ENST00000697846.1:n.1015-401A>C
ENST00000697847.1:n.1201+21A>C
ENST00000697848.1:n.1100+122A>C
ENST00000697849.1:n.2509A>C
ENST00000697850.1:n.1100+122A>C
ENST00000697851.1:n.2708+122A>C
ENST00000638186.1:n.1174+122A>C
ENST00000638360.1:n.1006+122A>C
ENST00000638925.1:n.1139+90A>C
ENST00000650539.1:n.1276+122A>C
ENST00000330775.9:c.870+122A>C	ENSP00000476242.2:n.870+122A>C
ENST00000357590.9:c.870+122A>C	ENSP00000476176.2:n.870+122A>C
ENST00000524428.5:n.1107-401A>C
ENST00000525039.5:n.1294+122A>C
ENST00000525102.5:n.1628+122A>C
ENST00000525372.5:n.968+25A>C
ENST00000526275.5:n.1652+122A>C
ENST00000527992.5:n.1098+122A>C
ENST00000529510.5:n.559-401A>C
ENST00000530407.5:n.1020+122A>C
ENST00000532085.1:n.3851A>C
ENST00000538950.5:c.651+122A>C	ENSP00000475991.2:n.651+122A>C
ENST00000545985.5:c.870+122A>C	ENSP00000475241.2:n.870+122A>C
NM_001164277.1:c.870+122A>C , LRG_187t1:c.870+122A>C	NP_001157749.1:n.870+122A>C
NM_001164278.1:c.870+122A>C	NP_001157750.1:n.870+122A>C
NM_001164279.1:c.651+122A>C	NP_001157751.1:n.651+122A>C
NM_001164280.1:c.870+122A>C	NP_001157752.1:n.870+122A>C
NM_001467.5:c.870+122A>C	NP_001458.1:n.870+122A>C
NM_001164278.2:c.870+122A>C	NP_001157750.1:n.870+122A>C
NM_001164279.2:c.651+122A>C	NP_001157751.1:n.651+122A>C
NM_001164280.2:c.870+122A>C	NP_001157752.1:n.870+122A>C
NM_001467.6:c.870+122A>C	NP_001458.1:n.870+122A>C
NM_001164277.2:c.870+122A>C MANE Select	NP_001157749.1:n.870+122A>C